{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T03:21:42Z","timestamp":1779160902296,"version":"3.51.4"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T00:00:00Z","timestamp":1583884800000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,3,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mosaic embryos have the potential to implant and develop into healthy babies. The transfer of mosaic embryos is now considered to be a possible option for women undergoing ART with preimplantation genetic testing for aneuploidies and in the absence of euploid embryos, particularly those with diminished ovarian reserve and\/or advanced maternal age. It can aid in avoiding the discard of potentially viable embryos, which might otherwise result in healthy babies. In over 500 studies on mosaicism, there have been no reports of mosaicism in babies born following the transfer of mosaic embryos. Here, we present a case report of a 39-year-old woman with diminished ovarian reserve with only one blastocyst available for trophectoderm biopsy. The transfer of the embryo, which showed 35% mosaicism of monosomy 2, resulted in pregnancy. Amniocentesis revealed a mosaic trisomic mos46,XX(98)\/47,XX,+2(2) karyotype. There were no pathological findings in detailed ultrasonography, and the fetus showed a normal fetal growth with no evidence of intrauterine growth retardation. A healthy female baby was born at Week 37. The peripheral blood chromosome analysis validated with fluorescence in situ hybridization showed 2% mosaic monosomy 2 [mos45,XX,-2(2)\/46,XX(98)]. This is the first reported case of true fetal mosaicism resulting in a live birth following the transfer of a known mosaic embryo. Worldwide, prenatal diagnosis has shown the depletion of mosaicism in embryos transferred after they have been reported as mosaics. Our case demonstrates the need for close prenatal monitoring and diagnosis by early amniocentesis, preferably at &amp;gt;14\u00a0weeks gestation.<\/jats:p>","DOI":"10.1093\/humrep\/dez309","type":"journal-article","created":{"date-parts":[[2019,12,31]],"date-time":"2019-12-31T12:09:34Z","timestamp":1577794174000},"page":"727-733","source":"Crossref","is-referenced-by-count":98,"title":["The birth of a baby with mosaicism resulting from a known mosaic embryo transfer: a case report"],"prefix":"10.1093","volume":"35","author":[{"given":"Semra","family":"Kahraman","sequence":"first","affiliation":[{"name":"Istanbul Memorial Hospital, Assisted Reproductive Technologies and Reproductive Genetics Center, Piyale Pasa Bulvari 34385, Sisli, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Cetinkaya","sequence":"first","affiliation":[{"name":"Istanbul Memorial Hospital, Assisted Reproductive Technologies and Reproductive Genetics Center, Piyale Pasa Bulvari 34385, Sisli, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beril","family":"Yuksel","sequence":"first","affiliation":[{"name":"Istanbul Memorial Hospital, Assisted Reproductive Technologies and Reproductive Genetics Center, Piyale Pasa Bulvari 34385, Sisli, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mesut","family":"Yesil","sequence":"first","affiliation":[{"name":"Istanbul Memorial Hospital, Assisted Reproductive Technologies and Reproductive Genetics Center, Piyale Pasa Bulvari 34385, Sisli, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Pirkevi Cetinkaya","sequence":"first","affiliation":[{"name":"Istanbul Memorial Hospital, Assisted Reproductive Technologies and Reproductive Genetics Center, Piyale Pasa Bulvari 34385, Sisli, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,3,10]]},"reference":[{"issue":"1","key":"2020033016250220900_ref1","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1093\/humrep\/dei291","article-title":"Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF","volume":"21","author":"Baart","year":"2006","journal-title":"Hum Reprod"},{"issue":"9","key":"2020033016250220900_ref2","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1093\/hmg\/10.9.963","article-title":"Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone","volume":"10","author":"Bean","year":"2001  15","journal-title":"Hum Mol Genet"},{"issue":"9","key":"2020033016250220900_ref3","doi-asserted-by":"crossref","first-page":"2362","DOI":"10.1093\/humrep\/17.9.2362","article-title":"Fertilization in vitro increases non-disjunction during early cleavage divisions in a mouse model system","volume":"17","author":"Bean","year":"2002","journal-title":"Hum Reprod"},{"key":"2020033016250220900_ref4","doi-asserted-by":"crossref","first-page":"11165","DOI":"10.1038\/ncomms11165","article-title":"Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential","volume":"7","author":"Bolton","year":"2016  29","journal-title":"Nat Commun"},{"issue":"8","key":"2020033016250220900_ref5","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1093\/humrep\/det245","article-title":"FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage","volume":"28","author":"Capalbo","year":"2013","journal-title":"Hum Reprod"},{"issue":"4","key":"2020033016250220900_ref6","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.tjog.2012.09.016","article-title":"Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis","volume":"51","author":"Chen","year":"2012","journal-title":"Taiwan J Obstet Gynecol"},{"key":"2020033016250220900_ref7","author":"COGEN position statement on chromosomal mosaicism detected in preimplantation blastocyst biopsies","year":"2017"},{"issue":"4","key":"2020033016250220900_ref8","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/ajmg.c.30153","article-title":"Chromosome 2q37 deletion: clinical and molecular aspects","volume":"145C","author":"Falk","year":"2007  15","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"7","key":"2020033016250220900_ref9","doi-asserted-by":"crossref","first-page":"1616","DOI":"10.1093\/humrep\/der092","article-title":"ESHRE working group on Poor Ovarian Response Definition. 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